The most severe forms of nephrolithiasis are Mendelian disorders.
Although rare, these forms should be diagnosed because they may have specific treatments.
Their recognition is key to personalized/precision medicine.
It is the case of type I primary hyperoxaluria, a dramatic condition that has now a treatment.
Many of the monogenic forms of nephrolithiasis are associated with nephrocalcinosis.
This is an almost neglected condition of which even the definition is unclear.
To define what nephrocalcinosis is, the meeting will start with the presentation of the preliminary results of a Consensus Document written by a group of experts that join the competence in bone
and mineral abnormalities of CKD (the working group of ERA on CKDMBD)
and the bone and mineral abnormalities of nephrolithiasis (the Faculty of the 6th Symposium).
We are facing a sort of crisis in treating patients with nephrolithiasis.
On one side, the terrific technological advancement that has brought in the surgical theatre tools for truly mini-invasive treatments of stones, absorbing almost totally the attention of urologists who have less and less time for stone metaphylaxis; on the other, very few nephrologists know how to do stone metaphylaxis because the easy non-invasive removal of stones is perceived as sufficient. However, behind nephrolithiasis, severe conditions may be present, including the genetic forms that frequently lead to CKD and ESKD, among many others. Their diagnosis is crucial for giving specific treatments. However, even in the idiopathic cases of nephrolithiasis, the quality of life of the patient may be compromised because of pain, hospital admissions, urological treatments, days lost at work, etc. These patients, too, need efficacious treatments. This is why we, in cooperation with the Slovenian Society of Nephrology, have dedicated the last part of the Symposium to an introductory course on Nephrolithiasis for nephrologists. We hope that this will help to spread the knowledge and the skills necessary to nephrologists for treating patients
with nephrolithiasis, to give them better prognosis and quality of life.